ORPHA:228169
Autosomal dominant striatal neurodegeneration
Synonyms: ADSD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant striatal neurodegeneration | ADSD |
| fr | Neurodégénérescence striatale autosomique dominante | = en |
| de | Neurodegeneration, striatale, autosomal-dominante | = en |
| es | Neurodegeneración estriatal autosómica dominante | = en |
| it | Neurodegenerazione striatale autosomica dominante | = en |
| nl | Autosomaal dominante striatale neurodegeneratie | = en |
| pt | Neurodegenerescência do estriado autossómica dominante | |
| pl | Autosomalna dominująca neurodegeneracja prążkowia | = en |
| cs | Autozomálně dominantní striatová neurodegenerace | = en |
| uk | Аутосомно-домінантна стриарна нейродегенерація | = en |
| zh | 常染色体显性遗传纹状体神经变性 | = en |
| tr | Otozomal dominant striatal nörodejenerasyon | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609161 | E | validated | |
| ICD-10 | G31.8 | NTBT | attributed | validated |
| MONDO | 0000211 | E | validated | |
| UMLS | C4511004 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:307055Rare parkinsonian syndrome due to genetic neurodegenerative disease
rare genetic diseases - ORPHA:306666Rare parkinsonian syndrome due to neurodegenerative disease
rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PDE8B | Disease-causing germline mutation(s) in | Assessed | HGNC:8794 | ENSG00000113231 | 603390 | 5q13.3 | phosphodiesterase 8B | 20085714[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 families | Worldwide | Family(ies) | Validated | 38818539[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15210883[PMID]_26769607[PMID]_26475694[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0002067 | Bradykinesia | |
| HP:0001260 | Dysarthria | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0002063 | Rigidity | |
| Frequent (79-30%) | ||
| HP:0002015 | Dysphagia | |
| HP:0001288 | Gait disturbance | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/228169
- This record as JSON: /data/d/228169.json